We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
ClinicalTrials.gov Menu

A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02435030
Recruitment Status : Completed
First Posted : May 6, 2015
Last Update Posted : May 18, 2017
Information provided by (Responsible Party):
KemPharm Denmark A/S

Brief Summary:

This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.

Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.

Condition or disease
Niemann-Pick Disease, Type C

Layout table for study information
Study Type : Observational
Actual Enrollment : 35 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern
Study Start Date : September 2015
Actual Primary Completion Date : May 2017
Actual Study Completion Date : May 2017

NP-C Patients
NPC type 1 or 2 patients aged 2-18 years

Primary Outcome Measures :
  1. NP-C clinical disease severity [ Time Frame: at week 0 and week 24-28 ]
    Change in NP-C Clinical Severity scale

  2. Quality of life questionnaire (EQ-5D-Y) [ Time Frame: at week 0 and week 24-28 ]
    Change in the Quality of life

  3. Ultrasonographic evaluation of liver and spleen [ Time Frame: at week 0 and week 24-28 ]
    Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).

  4. Oxysterol [ Time Frame: at week 0 and week 24-28 ]
    Change in Oxysterol concentrations

  5. NPC clinical symptoms [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC clinical symptoms

  6. NPC protein [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC protein concentrations

Secondary Outcome Measures :
  1. Safety Parameters [ Time Frame: at week 0 and week 24-28 ]
    Adverse events (AEs) (disease related and treatment related), haematology, clinical chemistry, physical examination, vital signs and electrocardiogram (ECG).

Biospecimen Retention:   Samples Without DNA

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   2 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
NPC1 and NPC2 patients aged 2-18 years

Inclusion Criteria:

  • Written informed consent (and assent if appropriate to local laws and regulations) prior to any study-related procedures;
  • Males and females aged from 2 years to 18 years and 11 months;
  • Patients of any ethnic background will be eligible for this study;
  • Patient weight ≥15th percentile of body mass index (BMI) for age according to the World Health Organisation (WHO) standards;
  • Diagnosis of Niemann Pick disease Type C (NP-C), either NPC1 or NPC2;
  • NP-C diagnosis genetically confirmed (deoxyribonucleic acid [DNA] sequence analysis);
  • Both NPC1 and NPC2 patients are eligible;
  • Presenting at least one neurological symptom of the disease (for example, but not limited to, hearing loss, vertical supranuclear gaze palsy, ataxia, dementia, dystonia, seizures, dysarthria, or dysphagia);
  • Ability to walk either independently or with assistance;
  • Ability to travel to the corresponding clinical trial site repeatedly (every 6 months) for evaluation and follow-up;
  • Treated or non-treated with miglustat;
  • If a patient is under prescribed treatment with miglustat, it has to be under stable dose of the medication for ≥ 3 continuous months prior to inclusion in the study;
  • Sexually active patients must be willing and able to use an adequate method of contraception throughout the study, for example: diaphragm + spermicide; intrauterine contraceptive device; oral contraceptives; implant; injection of a progestogen medication;
  • Ability to comply with the protocol-specified procedures/evaluations and scheduled visits;
  • Willing to participate in all aspects of trial design including serial blood sampling, skin biopsies and imaging (ultrasonography) collections.

Exclusion Criteria:

  • No written informed consent obtained from the patient or their parent(s)/legal guardian(s) (and assent if appropriate to local laws and regulation) before any study related procedures;
  • Recipient of a liver transplant or planned liver transplantation;
  • Patients with uncontrolled severe epileptic seizures period (at least 3 consecutive severe epileptic seizures that required medication) within 2 months prior to the written consent. This includes patients with ongoing seizures that are not stable in frequency or type or duration over a 2 month period prior to enrollment, requiring change in dose of antiepileptic medication (other than adjustment for weight) over a 2 month period prior to enrollment, or requiring 3 or more antiepileptic medications to control seizures;
  • Neurologically asymptomatic patients;
  • Severe liver insufficiency (defined as hepatic laboratory parameters, aspartate transaminase [AST] and alanine transaminase [ALT] greater than three-times the upper limit of normal for age and gender;
  • Severe renal insufficiency, with serum creatinine level greater than 1.5 times the upper limit of normal ;
  • Severe manifestations of NP-C disease that would interfere with the patient's ability to comply with the requirements of this protocol;
  • In the opinion of the Investigator, the patient's clinical condition does not allow for the required blood collection and/or skin biopsies as per the protocol-specified procedures;
  • Treatment with any IMP within 4 weeks prior to the study enrollment;
  • Treatment with any IMP during the study in an attempt to treat NP-C;
  • Current participation in another trial is not permitted unless it is a non-interventional study and the sole purpose of the trial is for long-term follow up/survival data (registry);
  • Patients will be excluded if there is a confirmed risk linked to the MRI procedure to be performed in the subsequent therapeutic interventional study [i.e.: implanted cardiac pacemaker or implantable cardioverter defibrillator, implanted neural pacemakers, cochlear implants, implanted metallic foreign bodies in the eye or CNS (such as a CNS aneurysmal clip), any form of implanted wire or metal device that may concentrate radio frequency fields and/or confirmed history of unexpected serious adverse reaction to sedation or anesthesia (if sedation is necessary)];
  • Patients will be excluded if there is a confirmed risk linked to the skin punch biopsy procedure like severe thrombocytopaenia, at investigator's discretion.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02435030

Layout table for location information
University Hospital Copenhagen (Rigshospitalet)
Copenhagen, Denmark, 2100
CHU de Montpellier
Montpellier, France
Hôpital Trousseau
Paris, France
Villa Metabolica Mainz
Mainz, Germany, 55131
Klinikum der Universistat, Munchen
Munich, Germany
Istituto Carlo Besta (Milano)
Milan, Italy, 20133
Azienda Ospedaliera San Gerardo
Monza, Italy, 20900
Università Federico II
Napoli, Italy, 80138
Ospedale Pediatrico Bambino Gesù
Rome, Italy, 00146
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia"
Udine, Italy
The Children´s Memorial Istitute Warsaw
Warsaw, Poland, 04-730
Hospital Vall D'Hebron
Barcelona, Spain, 08035
Hospital Quirón
Zaragoza, Spain, 50006
Inselspital, University Hospital Bern
Bern, Switzerland, 3010
United Kingdom
Birmingham Children's Hospital
Birmingham, United Kingdom, B4 6NH
Great Ormond Street Hospital
London, United Kingdom, WC1N 3JH
Sponsors and Collaborators
KemPharm Denmark A/S
Layout table for investigator information
Principal Investigator: Karl-Eugen Mengel Villa Metabolica, Mainz, Germany
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Layout table for additonal information
Responsible Party: KemPharm Denmark A/S
ClinicalTrials.gov Identifier: NCT02435030    
Other Study ID Numbers: CT-ORZY-NPC-001
2014-005194-37 ( EudraCT Number )
First Posted: May 6, 2015    Key Record Dates
Last Update Posted: May 18, 2017
Last Verified: May 2017
Keywords provided by KemPharm Denmark A/S:
lysosomal storage disorder
lysosomal storage disease
Niemann-Pick Type C
Additional relevant MeSH terms:
Layout table for MeSH terms
Pick Disease of the Brain
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Aphasia, Primary Progressive
Frontotemporal Dementia
Frontotemporal Lobar Degeneration
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
TDP-43 Proteinopathies
Neurodegenerative Diseases
Proteostasis Deficiencies
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases